MCID: PYR011
MIFTS: 39

Pyropoikilocytosis malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis

About this section

Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 49 11
Hereditary Pyropoikilocytosis 45 22 67 65
Pyropoikilocytosis, Hereditary 47 24
 
Hpp 22 67
Pyropoikilocytosis Hereditary 45

Characteristics:

HPO:

61
pyropoikilocytosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 266140
MedGen34 C0520739
UMLS65 C0520739

Summaries for Pyropoikilocytosis

About this section
OMIM:49 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hypophosphatasia and melanoma, and has symptoms including pyropoikilocytosis, microspherocytosis and elliptocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include heart, kidney and skeletal muscle.

UniProtKB/Swiss-Prot:67 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia:68 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis

About this section

Graphical network of the top 20 diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms for Pyropoikilocytosis

About this section

Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

HPO human phenotypes related to Pyropoikilocytosis:

id Description Frequency HPO Source Accession
1 pyropoikilocytosis HP:0004839
2 microspherocytosis HP:0004835
3 elliptocytosis HP:0004445
4 hemolytic anemia HP:0001878

Drugs & Therapeutics for Pyropoikilocytosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

About this section

Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis22 SPTA1

Anatomical Context for Pyropoikilocytosis

About this section

MalaCards organs/tissues related to Pyropoikilocytosis:

33
Heart, Kidney, Skeletal muscle, Thyroid, Breast, Pituitary, T cells

Animal Models for Pyropoikilocytosis or affiliated genes

About this section

Publications for Pyropoikilocytosis

About this section

Articles related to Pyropoikilocytosis:

(show all 39)
idTitleAuthorsYear
1
Germinoma recurrence in the conus medullaris 12 years after remission of primary intracranial lesion in the pituitary. (26642951)
2016
2
Glabellar dermoid cyst: A case presentation. (26885559)
2016
3
Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. (25636233)
2015
4
Microscopic Polyangiitis Manifesting as Lymphoma. (24564595)
2014
5
Immune regulatory effects of panobinostat in patients with Hodgkin lymphoma through modulation of serum cytokine levels and T-cell PD1 expression. (25105535)
2014
6
Complex pulmonary aspergilloma treated by cavernostomy. (25742406)
2014
7
Corneal neovascularization: An enigma. (24379562)
2013
8
Elevated human chorionic gonadotropin levels in patients with chronic kidney disease: Case series and review of literature. (24339520)
2013
9
Tudor: a versatile family of histone methylation 'readers'. (24035451)
2013
10
Odontogenic myxoma with orbital involvement. (23034692)
2013
11
The law's understanding of intellectual disability as a disability. (23537356)
2013
12
Nonlinear dynamical systems effects of homeopathic remedies on multiscale entropy and correlation dimension of slow wave sleep EEG in young adults with histories of coffee-induced insomnia. (22818237)
2012
13
Do mucositis lesions around implants differ from gingivitis lesions around teeth? (21323714)
2011
14
Point mutations in myelodysplastic syndromes. (21992130)
2011
15
Carney complex: Clinical and genetic 2010 update. (20850710)
2010
16
Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. (20033212)
2010
17
Improved survival of mice deficient in secretory immunoglobulin M following systemic infection with Cryptococcus neoformans. (19901068)
2010
18
Prognostic value of combination of heart-type fatty acid-binding protein and ischemia-modified albumin in patients with acute coronary syndromes and normal troponin T values. (19140206)
2009
19
Transepithelial activation of human leukocytes by probiotics and commensal bacteria: role of Enterobacteriaceae-type endotoxin. (19714861)
2009
20
Involvement of the p66Shc protein in glucose transport regulation in skeletal muscle myoblasts. (18957618)
2009
21
Diagnosing and monitoring hepatocellular carcinoma with alpha-fetoprotein: new aspects and applications. (18538135)
2008
22
Functional interaction between the homeoprotein CDX1 and the transcriptional machinery containing the TATA-binding protein. (17158164)
2007
23
New staging system for sinonasal inverted papilloma in the endoscopic era. (17632914)
2007
24
Ancestral European roots of Helicobacter pylori in India. (17584914)
2007
25
New combination of triamcinolone, 5-Fluorouracil, and pulsed-dye laser for treatment of keloid and hypertrophic scars. (16875473)
2006
26
Relevance of the recombinant lipid transfer protein of Hevea brasiliensis: IgE-binding reactivity in fruit-allergic adults. (17165273)
2006
27
Increased toll-like receptor 4 in the myocardium of patients requiring left ventricular assist devices. (14761771)
2004
28
Tissue transglutaminase directly regulates adenylyl cyclase resulting in enhanced cAMP-response element-binding protein (CREB) activation. (12743114)
2003
29
The signal transduction of the growth hormone receptor is regulated by the ubiquitin/proteasome system and continues after endocytosis. (11152671)
2001
30
Transcriptional properties of Ptx1 and Ptx2 isoforms. (10859489)
2000
31
CNS germinoma: disease control and long-term functional outcome for 12 children treated with craniospinal irradiation. (10725628)
2000
32
Residues forming a hydrophobic pocket in ARF3 are determinants of GDP dissociation and effector interactions. (11150519)
2000
33
Acute renal failure of unknown origin. Don't forget renal tuberculosis. (9198064)
1997
34
Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. (3037537)
1987
35
Malignant teratoma in the thyroid gland of an adult: a case report and a review of the literature. (3775664)
1986
36
Cornelia de Lange syndrome with intracranial germinoma. (3962671)
1986
37
Laurence-Moon-Bardet-Biedl syndrome in Israel. (5505470)
1970
38
Squamous cell carcinoma simulating granuloma inguinale. (14770485)
1950
39
THE ASSOCIATION OF GALL-BLADDER DISEASE WITH CARDIAC LESIONS. (20320996)
1938

Variations for Pyropoikilocytosis

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

67
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPTBNM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)single nucleotide variantPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg)single nucleotide variantPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1NM_003126.2(SPTA1): c.2806-13T> Gsingle nucleotide variantPathogenicrs757147440GRCh37Chr 1, 158626459: 158626459
9SPTA1SPTA1, IVS22DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Pyropoikilocytosis

About this section
Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

About this section

Pathways related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SPTA1, SPTB
29.3SPTA1, SPTB

GO Terms for genes affiliated with Pyropoikilocytosis

About this section

Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spectrinGO:00080919.3SPTA1, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.0SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathwayGO:00085439.6SPTA1, SPTB
2small GTPase mediated signal transductionGO:00072649.4SPTA1, SPTB
3activation of MAPKK activityGO:00001869.3SPTA1, SPTB
4neurotrophin TRK receptor signaling pathwayGO:00480119.3SPTA1, SPTB
5insulin receptor signaling pathwayGO:00082869.2SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.3SPTA1, SPTB

Sources for Pyropoikilocytosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet